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GRHL2 grainyhead like transcription factor 2 [ Homo sapiens (human) ]

Gene ID: 79977, updated on 3-Mar-2019

Summary

Official Symbol
GRHL2provided by HGNC
Official Full Name
grainyhead like transcription factor 2provided by HGNC
Primary source
HGNC:HGNC:2799
See related
Ensembl:ENSG00000083307 MIM:608576
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
BOM; ECTDS; PPCD4; DFNA28; TFCP2L3
Summary
The protein encoded by this gene is a transcription factor that can act as a homodimer or as a heterodimer with either GRHL1 or GRHL3. Defects in this gene are a cause of non-syndromic sensorineural deafness autosomal dominant type 28 (DFNA28).[provided by RefSeq, Mar 2009]
Expression
Broad expression in skin (RPKM 14.0), prostate (RPKM 13.5) and 14 other tissues See more
Orthologs

Genomic context

See GRHL2 in Genome Data Viewer
Location:
8q22.3
Exon count:
18
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 8 NC_000008.11 (101492439..101678104)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 8 NC_000008.10 (102504668..102681954)

Chromosome 8 - NC_000008.11Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC107986897 Neighboring gene RNA, 7SL, cytoplasmic 563, pseudogene Neighboring gene uncharacterized LOC107986961 Neighboring gene uncharacterized LOC107986962 Neighboring gene SAP domain containing ribonucleoprotein pseudogene Neighboring gene probable ribosome biogenesis protein RLP24 pseudogene Neighboring gene neurocalcin delta Neighboring gene PDCL3 pseudogene 2 Neighboring gene uncharacterized LOC107986963

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Phenotypes

Associated conditions

Description Tests
CORNEAL DYSTROPHY, POSTERIOR POLYMORPHOUS, 4
MedGen: CN248531 OMIM: 618031 GeneReviews: Not available
not available
Deafness, autosomal dominant 28 Compare labs
Ectodermal dysplasia/short stature syndrome
MedGen: C4014987 OMIM: 616029 GeneReviews: Not available
Compare labs

NHGRI GWAS Catalog

Description
A genome-wide association study (GWAS) for bronchopulmonary dysplasia.
NHGRI GWA Catalog
Genetics of rheumatoid arthritis contributes to biology and drug discovery.
NHGRI GWA Catalog

Pathways from BioSystems

  • Endoderm Differentiation, organism-specific biosystem (from WikiPathways)
    Endoderm Differentiation, organism-specific biosystemModel depicting endoderm specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell lin...
  • Mesodermal Commitment Pathway, organism-specific biosystem (from WikiPathways)
    Mesodermal Commitment Pathway, organism-specific biosystemModel depicting mesodermal specification based on the literature and highly enriched gene expression profiles via comparison across dozens of independent induced and embryonic pluripotent stem cell l...

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ11172, FLJ13782, MGC149294, MGC149295

Gene Ontology Provided by GOA

Process Evidence Code Pubs
bicellular tight junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
brain development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
camera-type eye development IEA
Inferred from Electronic Annotation
more info
 
cardiac ventricle morphogenesis IEA
Inferred from Electronic Annotation
more info
 
cell adhesion IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell junction assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
cell proliferation IMP
Inferred from Mutant Phenotype
more info
PubMed 
embryonic cranial skeleton morphogenesis IEA
Inferred from Electronic Annotation
more info
 
embryonic digit morphogenesis IEA
Inferred from Electronic Annotation
more info
 
epidermis development IDA
Inferred from Direct Assay
more info
PubMed 
epithelial cell morphogenesis IMP
Inferred from Mutant Phenotype
more info
PubMed 
epithelial cell morphogenesis ISS
Inferred from Sequence or Structural Similarity
more info
 
epithelial cell morphogenesis involved in placental branching IEA
Inferred from Electronic Annotation
more info
 
epithelium migration ISS
Inferred from Sequence or Structural Similarity
more info
 
face development IEA
Inferred from Electronic Annotation
more info
 
lung epithelial cell differentiation ISS
Inferred from Sequence or Structural Similarity
more info
 
lung lobe morphogenesis IEA
Inferred from Electronic Annotation
more info
 
multicellular organism growth IEA
Inferred from Electronic Annotation
more info
 
negative regulation of keratinocyte differentiation IDA
Inferred from Direct Assay
more info
PubMed 
neural tube closure ISS
Inferred from Sequence or Structural Similarity
more info
 
neural tube development IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
positive regulation of telomerase activity IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II IDA
Inferred from Direct Assay
more info
PubMed 
positive regulation of transcription by RNA polymerase II IMP
Inferred from Mutant Phenotype
more info
PubMed 
positive regulation of transcription by RNA polymerase II ISS
Inferred from Sequence or Structural Similarity
more info
 
regulation of DNA methylation IDA
Inferred from Direct Assay
more info
PubMed 
regulation of DNA methylation IMP
Inferred from Mutant Phenotype
more info
PubMed 
regulation of transcription by RNA polymerase II IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
cell-cell junction IDA
Inferred from Direct Assay
more info
PubMed 
membrane IEA
Inferred from Electronic Annotation
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 
nucleus IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
nucleus IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
grainyhead-like protein 2 homolog
Names
brother of mammalian grainyhead
grainyhead-like 2
transcription factor CP2-like 3

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_011971.2 RefSeqGene

    Range
    5001..182287
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001330593.1NP_001317522.1  grainyhead-like protein 2 homolog isoform 2

    Status: REVIEWED

    Source sequence(s)
    AK296817, AP000426, AP001207, BC069633, BX117477, DN916458
    Consensus CDS
    CCDS83312.1
    UniProtKB/Swiss-Prot
    Q6ISB3
    UniProtKB/TrEMBL
    B4DL28
    Related
    ENSP00000379260.1, ENST00000395927.1
    Conserved Domains (1) summary
    pfam04516
    Location:213422
    CP2; CP2 transcription factor
  2. NM_024915.3NP_079191.2  grainyhead-like protein 2 homolog isoform 1

    See identical proteins and their annotated locations for NP_079191.2

    Status: REVIEWED

    Source sequence(s)
    AP000426, AP001207, BC069638
    Consensus CDS
    CCDS34931.1
    UniProtKB/Swiss-Prot
    Q6ISB3
    Related
    ENSP00000495564.1, ENST00000646743.1
    Conserved Domains (1) summary
    pfam04516
    Location:229438
    CP2; CP2 transcription factor

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 109

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000008.11 Reference GRCh38.p12 Primary Assembly

    Range
    101492439..101678104
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011517307.3XP_011515609.1  grainyhead-like protein 2 homolog isoform X2

    Conserved Domains (1) summary
    pfam04516
    Location:229438
    CP2; CP2 transcription factor
  2. XM_011517306.3XP_011515608.1  grainyhead-like protein 2 homolog isoform X1

    See identical proteins and their annotated locations for XP_011515608.1

    UniProtKB/Swiss-Prot
    Q6ISB3
    Conserved Domains (1) summary
    pfam04516
    Location:213422
    CP2; CP2 transcription factor
  3. XM_024447286.1XP_024303054.1  grainyhead-like protein 2 homolog isoform X3

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